NBEAL2, neurobeachin like 2, 23218

N. diseases: 78; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907113
rs387907113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412 2011
dbSNP: rs387907113
rs387907113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411 2011
dbSNP: rs387907113
rs387907113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
dbSNP: rs387907114
rs387907114
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412 2011
dbSNP: rs387907114
rs387907114
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411 2011
dbSNP: rs387907114
rs387907114
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
dbSNP: rs387907115
rs387907115
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411 2011
dbSNP: rs387907115
rs387907115
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412 2011
dbSNP: rs387907115
rs387907115
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.800 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
dbSNP: rs387907113
rs387907113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387907114
rs387907114
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907115
rs387907115
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1357067113
rs1357067113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411 2011
dbSNP: rs1357067113
rs1357067113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412 2011
dbSNP: rs1357067113
rs1357067113
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
dbSNP: rs749896920
rs749896920
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011
dbSNP: rs749896920
rs749896920
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412 2011
dbSNP: rs749896920
rs749896920
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411 2011
dbSNP: rs1341020147
rs1341020147
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553659758
rs1553659758
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553663498
rs1553663498
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs372277612
rs372277612
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387907112
rs387907112
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs750160418
rs750160418
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs794726682
rs794726682
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		A 0.700 CausalMutation CLINVAR